RESUMO
Autoimmune polyendocrine syndromes (APS) encompass m ultiple e ndocrin e gland ins ufficiencies asso ci ated wit h auto immune disease. This c as e report underscores the importance of recognising the association between latent auto immune di a betes of ad ults (LADA) and type 3 polyglandular syndrome. A 42-year-old man belonging to R awalpi ndi, Pakistan, p resented to th e out patient department (OPD) of Ali Medi cal Centre, Islamab ad, i n Januar y 2023 with the complaints o f e xtreme thirs t and frequent urination. The patient reported consistently raised app etite an d eating four to five meals a day along with abrupt weight loss, dry mouth, fatigue occasional dizziness, an d dyspnoea. He was diagno s ed with type 3 polygla ndular syndrome w ith associat io n of LADA. Daily administration of 10 units of glargine insulin, along with six units of rapid-acting insulin, was prescribed. The patient's H bA1c level reduce d in a few months afte r succe ssive follow-up. Patients who exhi bit uncontrol led diabe tes despite dietar y and oral hypoglycaemic management should be further investigated for multiple au toimmune endocrine disorders.
Assuntos
Diabetes Autoimune Latente em Adultos , Poliendocrinopatias Autoimunes , Humanos , Adulto , Masculino , Poliendocrinopatias Autoimunes/diagnóstico , Poliendocrinopatias Autoimunes/complicações , Poliendocrinopatias Autoimunes/tratamento farmacológico , Diabetes Autoimune Latente em Adultos/diagnósticoRESUMO
Vitamin D-dependent Rickets Type II (VDDR-II) is a rare autosomal recessive disorder caused by a vitamin D receptor gene mutation, leading to end-organ resistance to 1,25-dihydroxyvitamin D 1,25(OH)2D. We aimed to investigate two cases of VDDR-II. Case 1 was of a 14-year old male, presenting with bone pains, bowing of legs, multiple bone deformities, and fractures since childhood. On examination, Chvostek's and Trousseau's signs were positive, and there was no alopecia. Case 2 was a 15-year old male who presented with pain in both legs since childhood and difficulty in walking lately. Upon investigation, it was found that bowing of legs, and Chvostek's and Trousseau's signs were positive. Both cases had severe hypocalcaemia, normal/low phosphate levels, and high alkaline phosphatase (ALP). Vitamin D levels were normal, and 1,25(OH) Vitamin D was very high, thus confirming the diagnosis of VDDR II. Both of the cases highlight a tremendous delay in diagnosis, resulting in severe adverse skeletal outcomes.
Assuntos
Hipocalcemia , Anormalidades Musculoesqueléticas , Raquitismo , Masculino , Humanos , Criança , Adolescente , Diagnóstico Tardio , Vitamina D/uso terapêutico , Vitaminas , Raquitismo/diagnóstico , Raquitismo/genéticaRESUMO
OBJECTIVES: The purpose of the study was to access the efficacy and response of the endoscopic transsphenoidal surgery in pituitary adenomas. METHODS: It was descriptive case study, conducted at Neurosurgery Department in collaboration with the Endocrine Unit (Medical Unit-II) Of Jinnah Post Graduate Medical Center Karachi from January 2015 to July 2017. Patients with sellar, supra sellar and para sellar tumors were enrolled in the study. Patients with prolactinoma and recurrent pituitary tumors were excluded. Data was analyzed using SPPS 17. RESULTS: Sixty three patients were included in the study with mean age of 42±8.34 years. There were 40(63.5%) male patients and 23(36.5%) female patients with pituitary adenoma. Headache and visual impairment were the main presentation 55(87.3%) and 56 (88.8%) respectively. Out of all these patients the pituitary adenomas, 51(81%) patients had non secretory and 12 (19%) patients had secretory tumor. Out of these pituitary adenomas 53(84.1%) were macroadenomas and 10(15.9%) were microadenoma. Post operatively marked improvement in the headache was in all 100% patients and vision improved in 54 (96.4%). The most common post operative complication was cerebrospinal fluid (CSF) leak in 10 (15.9%) with 44 (69.8%) having no post complications at all. Mortality was reported to be just 1.6% i-e one patient. CONCLUSION: The endoscopic transsphenoidal approach for pituitary adenoma is the safest procedure with marked improvement in complications and reduction in patient's hospital stay.
RESUMO
OBJECTIVE: To determine the frequency, modes of clinical presentation and indications for replacement therapy in a cohort of patients with subclinical hypothyroidism (SCH). METHODS: This study was conducted at the Endocrine and Diabetes Unit of Jinnah Postgraduate Medical Centre from September 2007 - October 2015. This was a retrospective chart analysis of prospectively collected data in whichthe medical records of 4448 patients who had presented to the Endocrine Clinic from 2007 to 2015 were reviewed. A total of 2760 (62.05%) patients were diagnosed withthyroid disorders, whereas 260 (9.42%) patients had SCH. The SCH patients were between the age of 12 to 70 years; TSH was> 4mIU/l with normal levels of FT3 and FT4. Patients were enrolled using a predesigned structured proforma. Those having chronic systemic diseases were excluded from this study. SPSS 13 was used to evaluate the data. RESULTS: Femalepatients comprised93.8% (244 patients) of those with SCH, whereas only 6.2% (16 patients) were male. Common presenting symptoms were, lethargy in 146 patients (56.2%); increase in weight in 102 patients (39.2%) and menstrual irregularities in 90 patients (34.6%). TSH level of < 10mIU/l (4 - 10) was seen in 177 patients (68.1%) and 83 patients (31.9%) had TSH ≥ 10mU/l. Thyroxine was given to 183 (70.4%) of these patients. Common treatment indications were TSH of ≥ 10, which was seen in 83 patients (31.9%), subfertility in 32 patients (12.3%), troublesome symptoms suggestive of hypothyroidism in 31 patients (11.9%) and high titers of antibodies in 23 patients (8.8%). CONCLUSION: SCH is frequently seen in our population, with most patients complaining of lethargy. The most common treatment indications were a TSH ≥ 10mIU/l, whereas troublesome symptoms of hypothyroidism and subfertility were the common treatment indications in patients who had a TSH of < 10mIU/l.
RESUMO
OBJECTIVE: To study the causes, characteristics and outcome of treatment of patients with primary hyperparathyroidism. METHODS: This retrospective cohort analysis was conducted at the Jinnah Postgraduate Medical Centre, Karachi, and comprised data of patients with primary hyperparathyroidism between 2004 and 2014. .SPSS 17 was used for data analysis. RESULTS: Of the 25 patients,1(4%)was male and 24(96%) were female. The overall mean age was 41.72±15.9 years, with a mean duration of symptoms of 4.1±3.3 years. The mean pre-operative parathyroid hormone level was 879.48±793.51 pg/ml. Skeletal manifestations were reported in 17(68%) patients, whereas 4(16%) patients had renal stone disease. Besides, 2(8.0%) patients presented with severe abdominal pain, 1(4%) had asymptomatic hypercalcaemia and 1(4%) patient presented with headache and was diagnosed as parathyroid adenoma in the context of multiple endocrine neoplasia type 2A. All patients underwent parathyroidectomy. A solitary adenoma was reported in 23(92%) patients, carcinoma in 1(4%) and an adenoma with hyperplasia of other glands in 1(4%) patient. CONCLUSIONS: A high index of suspicion is required for early diagnosis of primary hyperparathyroidism.
Assuntos
Adenoma/cirurgia , Hiperparatireoidismo Primário/cirurgia , Neoplasias das Paratireoides/cirurgia , Dor Abdominal/etiologia , Adenoma/complicações , Adenoma/diagnóstico , Adenoma/metabolismo , Adulto , Estudos de Coortes , Feminino , Cefaleia/etiologia , Humanos , Hipercalcemia/etiologia , Hiperparatireoidismo Primário/diagnóstico , Hiperparatireoidismo Primário/etiologia , Hiperparatireoidismo Primário/metabolismo , Cálculos Renais/etiologia , Masculino , Pessoa de Meia-Idade , Neoplasia Endócrina Múltipla Tipo 2a/complicações , Hormônio Paratireóideo/metabolismo , Neoplasias das Paratireoides/complicações , Neoplasias das Paratireoides/diagnóstico , Neoplasias das Paratireoides/metabolismo , Paratireoidectomia , Estudos Retrospectivos , Adulto JovemRESUMO
OBJECTIVE: T To evaluate the frequency of different rheumatological disorders in patients visiting a tertiary care centre. METHODS: The retrospective analysis was conducted at the Rheumatology Clinic of Jinnah Postgraduate Medical Centre, Karachi, and comprised prospectively collected data of patients with different musculoskeletal disorders from February 2004 to February 2014. Detailed history, examination and laboratory investigations were recorded in a pre-designed structured proforma. The frequency, demographic characteristics and associated co-morbidities were studied. SPSS 17 was used for statistical analysis. RESULTS: Of the 603 patients whose data was analysed, 460(76.3%) were women and 143(23.7%) were men. Overall mean age of the patients was 35.2±12 years. Rheumatoid arthritis was diagnosed in 458(76%) patients, systemic lupus erythematosus in 42(7%) ankylosing spondylitis in 32(5.3%), mixed connective tissue disease in 22(3.6%) and scleroderma in 12(2%) patients. CONCLUSIONS: Rheumatological disorders constitute a major disease burden in a relatively young population of patients. RA was the most common disorder seen in our clinic, as seen elsewhere also, followed by SLE, AS, MCTD, etc.
Assuntos
Doenças Reumáticas/epidemiologia , Adulto , Distribuição por Idade , Antirreumáticos/uso terapêutico , Comorbidade , Efeitos Psicossociais da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Paquistão/epidemiologia , Estudos Retrospectivos , Doenças Reumáticas/complicações , Doenças Reumáticas/tratamento farmacológico , Centros de Atenção Terciária , Adulto JovemRESUMO
OBJECTIVE: To describe the mode of presentation and causes of the disorders of sexual differentiation in patients presenting in the Endocrine Clinic. STUDY DESIGN: Observational study. PLACE AND DURATION OF STUDY: The Endocrine and Diabetes Unit of Jinnah Postgraduate Medical Centre (JPMC), Karachi, from July 2012 to July 2014. METHODOLOGY: Patients with phenotypic, psychosocial gender confusion or absence of gender appropriate secondary sexual maturation were enrolled in the study. Patients having chronic systemic disease, as cause of delayed puberty, were excluded from the study. SPSS 13 was used to evaluate the data. RESULTS: A total of 48 patients registered in the study with mean age of 19.9 ±8 years. Female gender was assigned to 28 (58.3%) of which 8 (28.57%) had genital ambiguity. Male gender was assigned to 20 (41.66%) patients at the time of birth and 7 (35%) of them had ambiguous genitalia. Karyotyping could be done in 36 (75%) patients of which 17 (47.2%) were females and 19 (52.7%) were males. Karyotypic gender of the 19 (48.57%) male patients was 46 XX, 46 XY and 47 XXY; in 4 (21.05%), 5 (26.3%) and 10 (52.6%) patients, respectively with 9 Klinfelter syndrome. Karyotypic gender of 17 (47.42%) female patients were 46 XX, 46 XY and 45 X0; in 5 (29.4%), 3 (17.64%) and 9 (52.9%) patients, respectively. CONCLUSION: Disorder of sexual development constitutes a small but difficult area of endocrinology with disastrous consequences, especially if assigned wrong sex at birth. Mode of presentation of these cases was diverse ranging from delayed puberty, to gender confusion, to pregnancy in a male. Eventually in an adult patient assignment or reassignment of gender identity was primarily the patient's prerogative.
Assuntos
Transtornos do Desenvolvimento Sexual/etiologia , Transtornos do Desenvolvimento Sexual/fisiopatologia , Identidade de Gênero , Diferenciação Sexual/fisiologia , Desenvolvimento Sexual/fisiologia , Adolescente , Hiperplasia Suprarrenal Congênita/epidemiologia , Adulto , Transtornos do Desenvolvimento Sexual/epidemiologia , Transtornos do Desenvolvimento Sexual/genética , Feminino , Humanos , Cariotipagem , Síndrome de Klinefelter/epidemiologia , Masculino , Estudos Prospectivos , Estudos Retrospectivos , Diferenciação Sexual/genética , Desenvolvimento Sexual/genética , Adulto JovemRESUMO
Paraganglioma originates from chromaffin cells of adrenal medulla and autonomic paraganglia, which are derived from the neural crest cells. Paragangliomas are half as common as pheochromocytomas with 69% occurring in head and neck, 22% in abdomen and pelvis and 10% in the thorax. About 70% paragangliomas are sporadic, 30% are hereditary, having identifiable germline mutations of Succinate Dehydrogenase enzyme (SDH).
Assuntos
Cardiomiopatia Hipertrófica/diagnóstico por imagem , Erros de Diagnóstico , Paraganglioma/diagnóstico por imagem , Neoplasias Retroperitoneais/diagnóstico por imagem , Adolescente , Humanos , Hipertensão/etiologia , Masculino , Paraganglioma/complicações , Paraganglioma/cirurgia , Neoplasias Retroperitoneais/complicações , Neoplasias Retroperitoneais/cirurgia , Tomografia Computadorizada por Raios XRESUMO
OBJECTIVE: To determine the accuracy of MR Spectroscopy (MRS) in diagnosing brain tumors. STUDY DESIGN: Analytical study. PLACE AND DURATION OF STUDY: Neurosurgery Department, Jinnah Postgraduate Medical Centre, Karachi, from November 2010 to April 2011. METHODOLOGY: Fifty cases with brain tumors, who presented to Neurosurgery Department of Jinnah Postgraduate Medical Centre, Karachi, during the study period, were included in the study. All patients underwent MRS and later brain. Those with recurrent disease were excluded. Data was collected with the help of proforma. Data was analyzed using SPSS version 16. Comparison of MRS findings and biopsy diagnosis was done. Sensitivity, specificity, negative and positive predictive values (NPV and PPV) were determined keeping histopathology as the gold standard. RESULTS: Out of the 50 patients, there were 20 (40%) females and 30 (60%) males with mean age of 37 ± 13.24 years. The commonest presenting complaint was headache (76%) followed by weakness (62%) and seizures (30%). MRI had diagnosed 27 (51%) as neoplastic lesion. Spectroscopy reported 44 (88%) as neoplasms, while on histopathology, 42 (84%) were confirmed to have neoplasm. The accuracy of MRS was 94%, with 97.6% sensitivity, 71.42% specificity, 95.45% PPV and 83.3% NPV. CONCLUSION: Magnetic resonance spectroscopy can readily help in differentiating neoplasm from non-neoplastic brain tumors, thus an invasive brain biopsy procedure can be avoided.